SLC30A10

solute carrier family 30 member 10
OMIM: 611146
PanelMode of inheritanceDetails
3 panels
R-numbers: R56
Signed-off version 1.121
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermanganesemia with dystonia 1, OMIM:613280
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease, Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson Disease and Complex Parkinsonism, Early onset dystonia, Hypermanganesemia with dystonia 1, Hypermanganesemia with dystonia, polycythemia, and cirrhosis (Disorder of magnesium metabolism)